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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

Joey Chorzewski has Duchenne muscular dystrophy, a neuromuscular disease that makes him different from most of his peers in Marshfield, Massachusetts. But in other ways — like wanting to wear the same kind of clothing his friends wear — he’s a typical teenager. Thanks in part to the nonprofit …

People with facioscapulohumeral muscular dystrophy (FSHD) are “very enthusiastic” about participating in clinical trials and studies, according to researchers, who report that foot and leg, and shoulder and arm weakness have the greatest impact on patients’ quality of life. The investigators said their study found 93% of patients were…

Parent Project Muscular Dystrophy (PPMD) has launched a pilot program to screen newborns in New York state for Duchenne — one of the most common forms of muscular dystrophy. The $5 million program aims to screen 100,000 babies — about half of all those born each year in the…

Limb-girdle muscular dystrophy (LGMD) may be caused by previously unidentified TTN gene variants that are also associated with heart muscle disease, according to a study. Findings of the study, “Investigation of TTN variants in patients with Limb-Girdle Muscular Dystrophy identifies novel Titinopathies,” were presented by…

Very young boys with Duchenne muscular dystrophy (DMD) have measurable differences in motor skills, which could have implications for the early detection of DMD and for evaluating how treatments affect their development as opposed to the natural course of the disease, a study shows. Findings of the study, “…

RG6206 (BMS-986089), a blocker of muscle growth-inhibitor myostatin, is safe to use in boys with Duchenne muscular dystrophy (DMD), results from a Phase 1b/2 trial show. A Phase 2/3 trial of the drug (NCT03039686) is actively recruiting patients. Moreover, the results showed that the compound was able to reduce…

The investigational gene therapy GALGT2 for Duchenne muscular dystrophy (DMD) was found to be safe in a preclinical study conducted at the Research Institute at the Nationwide Children’s Hospital, the researchers said. The study was funded by a $100,000 grant awarded by Parent Project Muscular…

A protein called epidermal growth factor (EGF) can help preserve muscle strength and increase muscle regeneration in a mouse model of Duchenne muscular dystrophy (DMD), a finding that may pave the way for new treatment strategies for DMD, researchers said. The study, “EGFR-Aurka Signaling Rescues Polarity and…

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.